The value of third-generation sequencing for neonatal screening of thalassemia in the Yulin region of Southern China
Sisi Ning, Shibin He, Guanghong Wei, Yi Liang, Yuling Xie, Jing Zhou, Xiafei Liang, Hui Liu, Aiping Mao, Yunrong Qin · 2026
Read The value of third-generation sequencing for neonatal screening of thalassemia in the Yulin region of Southern China by Sisi Ning, Shibin He, Guanghong Wei, Yi Liang, Yuling Xie, Jing Zhou, Xiafei Liang, Hui Liu, Aiping Mao, Yunrong Qin (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/PMC13350062.txt.
Description
Sisi Ning and co-authors evaluated newborn screening for thalassemia using newer long-read gene sequencing in a 2026 prospective study in Yulin, southern China. The blood disorder is among the most common single-gene diseases, and newborn screening lags behind China's carrier and prenatal programmes.
Sequencing of 800 newborns found a carrier rate of 23.38 percent, spanning alpha, beta, and combined forms, with 25 different gene variants including 12 rare ones. Standard blood tests missed cases the sequencing caught. Finding carriers at birth in a high-burden region lets families plan care and future pregnancies early, and the study gauges whether the pricier test earns its place.
Catalog record
| CREATOR | Sisi Ning, Shibin He, Guanghong Wei, Yi Liang, Yuling Xie, Jing Zhou, Xiafei Liang, Hui Liu, Aiping Mao, Yunrong Qin |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 32815 |
| LICENSE | https://creativecommons.org/licenses/by/4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |